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889 Possible Causes for Abetalipoproteinemia, Possibly Scoliosis

Did you mean: Abetalipoproteinemia, Possibly, Scoliosis

  • Abetalipoproteinemia

    Scoliosis (curvature of the spine). Progressive decreased vision. Retinitis Pigmentosa. Balance and coordination problems.[medigoo.com] The first signs and symptoms of abetalipoproteinemia appear in infancy.[ghr.nlm.nih.gov] […] resulting in difficulty with balance and movement (ataxia) Retinitis pigmentosa; a condition in which there is a progressive degeneration of the retina, leading to vision loss Scoliosis[dovemed.com]

  • Familial Hypobetalipoproteinaemia Type 1

    Lethal 2 Gaucher Disease, Type 1 1 Gaucher Disease, Type II 1 Gaucher Disease, Type III 1 Gaucher Disease, Type IIIc 1 Gaze Palsy, Familial Horizontal, With Progressive Scoliosis[preventiongenetics.com] Microsomal triglyceride transfer protein and abetalipoproteinemia. Ann Endocrinol (Paris). 2000;61:125-9.[rarediseases.org] […] and cholesterol • Hypernyms: hypolipoproteinemia • Hyponyms: abetalipoproteinemia … Useful english dictionary familial hypobetalipoproteinemia — a disorder of lipid metabolism[translate.academic.ru]

  • Sprengel Deformity

    History A 6- year-old girl presented for evaluation of shoulder asymmetry and possible scoliosis.[healio.com] […] tipo III) IPERCOLESTEROLEMIA FAMILIARE OMOZIGOTE TIPO IIa IPERCOLESTEROLEMIA FAMILIARE OMOZIGOTE TIPO IIb DEFICIT FAMILIARE DI LIPASI LIPOPROTEICA IPOBETALIPOPROTEINEMIA ABETALIPOPROTEINEMIA[amaram.it] OBJECTIVES: To address the role of congenitally fused cervical segments, the degree of cervical scoliosis, and other risk factors on the presence of Sprengel's deformity ([ncbi.nlm.nih.gov]

  • Vitamin E Deficiency

    […] neurological symptoms, affected individuals may experience eye abnormalities, disorders affecting the heart muscles (cardiomyopathy), and abnormal curvature of the spine (scoliosis[rarediseases.org] The diseases of AVED, of cholestatic liver disease, and of abetalipoproteinemia are thought to be due to lack of circulating tocopherol, leading to inadequate protection against[ncbi.nlm.nih.gov] On examination she had a mild thoracic scoliosis, titubation of the head, gait and limb ataxia, areflexia, upgoing plantar responses, and dysarthria.[jnnp.bmj.com]

  • Friedreich Ataxia

    Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery.[ninds.nih.gov] Abetalipoproteinemia (ABL). ABL, also called Bassen-Kornzweig syndrome, affects the body's ability to use fats that have been eaten.[forgottendiseases.org] scoliosis due to Friedreichs ataxia Lumbar neuromuscular scoliosis due to Friedreich's ataxia Lumbar scoliosis due to Friedreichs ataxia Lumbosacral neuromuscular scoliosis[icd9data.com]

  • Spondylocostal Dysostosis

    If scoliosis is significant surgical intervention is given. Secondary complications must be prevented.[symptoma.com] 31, 40 and 49 of the FRAS1 gene by QMPSF Friedreich Ataxia GAA Expansion detection in the FXN gene Friedreich Ataxia Sanger Sequencing of the FXN gene Friedreich ataxia, Abetalipoproteinemia[pentacorelab.hu] The Genetics and Development of Scoliosis. New York: Springer; 2010. p. 81-108. 6. Aurora P, Wallis CE, Winter RM.[jcnonweb.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    scoliosis in one case.[omicsonline.org] IPERCOLESTEROLEMIA FAMILIARE ETEROZIGOTE TIPO IIA E IIB; IPERCOLESTEROLEMIA PRIMITIVA POLIGENICA; IPERCOLESTEROLEMIA FAMILIARE COMBINATA; IPERLIPOPROTEINEMIA DI TIPO III ABETALIPOPROTEINEMIA[updoc.site] KEYWORDS: Escobar syndrome; Multiple pterygium syndrome; congenital scoliosis; non-lethal type; surgical treatment [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    […] due to friedreich's ataxia Cervical scoliosis due to friedreichs ataxia Cervicothoracic neuromuscular scoliosis due to friedreich's ataxia Cervicothoracic scoliosis due to[icd10data.com] The most important of them are Friedreich ataxia and abetalipoproteinemia. FRDA is not treatable, while abetalipoproteinemia is.[forgottendiseases.org] Physical therapy and rehabilitation programs can help maximize motor function, and surgery can help severe scoliosis and severe cardiac problems.[forgottendiseases.org]

  • Autosomal Recessive Spinocerebellar Ataxia

    […] due to friedreich's ataxia Cervical scoliosis due to friedreichs ataxia Cervicothoracic neuromuscular scoliosis due to friedreich's ataxia Cervicothoracic scoliosis due to[icd10data.com] For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.[digital.csic.es] Management and treatment For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia.[orpha.net]

  • Hypoalphalipoproteinemia

    […] insulin-dependent diabetes mellitus 6 genetic locus 11 GCU990019 1.69 72 IDDM7 insulin-dependent diabetes mellitus 7 genetic locus 11 GCU990053 1.22 73 IS1 Adolescent idiopathic scoliosis[genecards.weizmann.ac.il] Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia Apolipoprotein B deficiency[ipfs.io] Medicines, blood transfusions, and other procedures may help with complications. [ Read More ] Abetalipoproteinemia Abetalipoproteinemia is an inherited disorder that impairs[icdlist.com]

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